Disorders of cobalamin metabolism

Disorders of cobalamin metabolism overlap with methylmalonic aciduria as the latter is mostly a result of a cobalamin deficiency. They are autosomal recessive metabolic disorder chracterized by elevated levels of methylmalonic acid in both blood and urine and a megaloblastic anemia.

Carmel R et al. (1980) Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.